Disease: Delayed speech and language development
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
YY1 P25490 YY1 transcription factor Transcription factor 0.99 0.481 0.808
WDR62 O43379 WD repeat domain 62 2.4E-23 0.597 0.615
TTI2 Q6NXR4 TELO2 interacting protein 2 3.6E-07 0.736 0.346
TRMT1 Q9NXH9 tRNA methyltransferase 1 1.9E-12 0.821 0.269
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
TH P07101 tyrosine hydroxylase 1.7E-06 0.462 0.885
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
STAG1 Q8WVM7 stromal antigen 1 Nucleic acid binding 1.00 0.656 0.577
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
SIN3A Q96ST3 SIN3 transcription regulator family member A Enzyme 1.00 0.551 0.692
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731
SHANK2 Q9UPX8 SH3 and multiple ankyrin repeat domains 2 8.4E-07 0.663 0.385
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
RAB39B Q96DA2 RAB39B, member RAS oncogene family 0.83 0.619 0.615
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PTCHD1 Q96NR3 patched domain containing 1 Receptor 0.98 0.678 0.385
PRKRA O75569 protein activator of interferon induced protein kinase EIF2AK2 Kinase 0.42 0.579 0.615
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NDST1 P52848 N-deacetylase and N-sulfotransferase 1 1.00 0.608 0.692